DISEASES - autosomal recessive osteopetrosis 1

Human genes for autosomal recessive osteopetrosis 1

Autosomal recessive osteopetrosis 1 [DOID:0110942]

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.

Synonyms: autosomal recessive osteopetrosis 1, DOID:0110942, autosomal recessive Albers-Schonberg disease, infantile malignant osteopetrosis 1, OPTB1 ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.